AutismKB 2.0

Annotation Detail for KDM3A


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:KDM3A ( DKFZp686A24246,DKFZp686P07111,JHDM2A,JHMD2A,JMJD1,JMJD1A,KIAA0742,TSGA )
Gene Full Name: lysine (K)-specific demethylase 3A
Band: 2p11.2
Quick LinksEntrez ID:55818; OMIM: 611512; Uniprot ID:KDM3A_HUMAN; ENSEMBL ID: ENSG00000115548; HGNC ID: 20815
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
445Phosphoserine.
889LXXLL motif.
895N6-acetyllysine.
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_018433
  • Location:chr2 86521953-86573348
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 86508123 86508404 281 13690
FOXA1 MCF7GSE15244 86521380 86521973 593 277
Fos K562GSE19551 86521069 86522248 1179 295
HIF1 NormHepG2 86521198 86521689 491 510
Myc K562GSE19551 86521070 86522159 1089 339
USF1 HepG2E 86520791 86521569 778 774
USF2 HepG2E 86520791 86521756 965 680
hScc1 BcellGSE12603 86521310 86521605 295 496
p63 keratinocytesGSE17611 86506739 86507619 880 14775
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 86521930 86522108 178 0
H3K4me3 colorectalcancer 86522760 86523448 688 0
H3ac HepG2E 86522837 86523665 828 0
Oct1 H2O2-HelaGSE14283 86555588 86555621 33 0
Oct1 HelaGSE14283 86555588 86555621 33 0
PolII HeLaGSE12783 86521075 86523742 2667 0
SRF GMOGSE8489 86522548 86525322 2774 0
SRF HelaGSE8489 86522548 86525322 2774 0
SRF k562GSE8489 86522548 86526528 3980 0
TAF HelaGSE8489 86522760 86523837 1077 0
TAF k562GSE8489 86522689 86523517 828 0
Validated miRNA targets Top
Cis-Nats regulation Top

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018